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  • Title: [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].
    Author: Zhou Y, Song X, Yi J, Jiang H, Wang J, Liao S, Tang B.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Dec; 25(6):646-8. PubMed ID: 19065522.
    Abstract:
    OBJECTIVE: To study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China. METHODS: The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was detected by PCR, digested with EcoN I, separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients, who had been excluded CAG/CAA repeat expansion at the SCA1, 2, 3, 6, 7, 17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci. The results were confirmed in four patients by direct sequencing. RESULTS: The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort. CONCLUSION: The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.
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